title: [Application of mPCR and MLPA in diagnostics of alpha-thalassaemia].
abstract: The thalassamias are inherited disorders resulting from unbalanced synthesis of normal polypeptide chains of haemoglobins: of alpha chains in alpha-thalassemia and of beta chains in beta-thalassemia. In Poland, in contrast to beta-thalassaemia, there is no routine diagnostic approach to alpha-thalassaemia. In the present study, for detection of alpha-thalassemia we employed Multiplex-PCR (mPCR) and Multiplex Ligation-dependent Probe Amplification (MPLA). 48 patients with microcytosis and normal or decreased level of haemoglobin HbA2 were examined. In 10 patients three different kinds of deletion mutations in alpha-globin genes were detected: homozygotes and heterozygotes of -alpha(3.7) mutation (-alpha(3.7/-alpha(3.7) and -alpha(3.7)alpha alpha respectively), heterozygotes of Asian mutations (--SEA/alpha alpha), and a heterozygote of Mediterranean mutation (--MED alpha alpha). Our results demonstrate the usefulness of the combined methods of mPCR and MLPA in the diagnostics of alpha-thalassaemia.
authors.affiliation: Pracownia Hemostazy Zakładu Diagnostyki Hematologicznej i Transfuzjologicznej, Instytut Hematologii i Transfuzjologii, Warszawa. annasplitt@wp.pl
authors.forename: Anna
authors.initials: A
authors.lastname: Splitt
authors.forename: Urszula
authors.initials: U
authors.lastname: Mokras
authors.forename: Jerzy
authors.initials: J
authors.lastname: Windyga
authors.forename: Jerzy
authors.initials: J
authors.lastname: Kościelak
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D005260:Female; D006443:Hemoglobin A2 / Q000378:metabolism*; D006801:Humans; D008297:Male; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000097:blood* / Q000175:diagnosis*
chemical_list: D015415:Biomarkers; D055542:alpha-Globins; D006443:Hemoglobin A2